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rs202142867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 8 Argininosuccinate lyase deficiency
(C;T) 3 Unaffected carrier of an argininosuccinate lyase mutation
(T;T) 0 common/normal
ReferenceGRCh38.p2 38.2/147
Chromosome7
Position66082887
GeneASL
is asnp
is mentioned by
dbSNPrs202142867
ClinGenrs202142867
ebirs202142867
HLIrs202142867
Exacrs202142867
Varsomers202142867
Maprs202142867
PheGenIrs202142867
hapmaprs202142867
1000 genomesrs202142867
hgdprs202142867
ensemblrs202142867
gopubmedrs202142867
geneviewrs202142867
scholarrs202142867
googlers202142867
pharmgkbrs202142867
gwascentralrs202142867
openSNPrs202142867
23andMers202142867
23andMe allrs202142867
SNP Nexus

SNPshotrs202142867
SNPdbers202142867
MSV3drs202142867
GWAS Ctlgrs202142867
Max Magnitude8
c.299T>C, p.Ile100Thr or I100T

pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]